Genetics and Heart Health After Cancer Therapy (Gene-HEART)

Abramson Cancer Center at Penn Medicine

Status: Completed

Conditions: Breast Cancer; Drug-Induced Cardiomyopathy; Heart Diseases; Hereditary Breast/Ovarian Cancer (brca1, brca2)

Treatments: Other: Blood Collection; Diagnostic Test: echocardiography; Other: Cardiopulmonary Exercise Testing

Study type: Observational

Funder types: Other

Identifiers

NCT03510689

UPCC 13117

Details and patient eligibility

About

The overall objective of this study is to use patient-centered in vitro and in vivo models to answer the fundamental question of whether or not pathogenic mutations in BRCA1/2 result in an increased risk of CV disease

Enrollment: 79 patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

Inclusion and exclusion criteria

Inclusion Criteria

• ≥18 years of age

• Initial diagnosis of Breast Cancer in 2005 or later

• Documented BRCA testing (results from a local laboratory are acceptable) showing

  • confirmation of a germline mutation in BRCA1 or BRCA2 that is predicted or suspected to be deleterious OR
  • confirmation that no mutation was detected in BRCA1 or BRCA2

• Non-carriers will have been treated with an anthracycline-based chemotherapy regimen; carriers may or may not have been treated with an anthracycline-based chemotherapy regimen.

• Approximately at least 12 months from initiation of adjuvant treatment or neo-adjuvant chemotherapy

• Able to provide informed consent

Exclusion Criteria

• Stage IV Breast Cancer

• Genetic testing confirming a variant of unknown significance (VUS) or benign polymorphism in BRCA1 or BRCA2

• V02 Testing contraindicated for any reason, including:

  • Myocardial infarction (within past 3 months)
  • High-risk unstable angina;
  • High-risk or uncontrolled cardiac arrhythmias;
  • Symptomatic severe aortic stenosis;
  • Uncontrolled symptomatic heart failure;
  • Acute pulmonary embolus or pulmonary infarction;
  • Acute myocarditis or pericarditis;
  • Acute aortic dissection;
  • Coronary revascularization procedure within the past three months;
  • Uncontrolled hypertension, defined as systolic blood pressure ≥ 180mmHg or diastolic blood pressure ≥ 100mmHg;
  • Clinically significant valvular heart disease (severe stenosis or regurgitation);
  • Known aortic aneurysm; or
  • Any other condition which, in the opinion of the investigator, may impede testing of the study hypothesis or make it unsafe to engage in the V02 test

• Women who are pregnant

• Any other clinically significant medical disease or condition that, in the investigator's opinion, may interfere with protocol adherence or a subject's ability to give informed consent

Trial design

79 participants in 3 patient groups

Group 1

Description:

Subjects with genetic testing confirming deleterious mutations in BRCA1 or BRCA2 whose prior treatment for breast cancer includes anthracycline exposure. All groups have same schedule of study procedures, including echocardiography, cardiopulmonary exercise testing, and blood collection.

Treatment:

Diagnostic Test: echocardiography

Other: Cardiopulmonary Exercise Testing

Other: Blood Collection

Group 2

Description:

Subjects with genetic testing confirming deleterious mutations in BRCA1 or BRCA2 whose prior treatment for breast cancer does not include anthracycline exposure. All groups have same schedule of study procedures, including echocardiography, cardiopulmonary exercise testing, and blood collection.

Treatment:

Diagnostic Test: echocardiography

Other: Cardiopulmonary Exercise Testing

Other: Blood Collection

Group 3

Description:

Subjects with genetic testing confirming no mutation in BRCA1 or BRCA2 whose prior treatment for breast cancer includes anthracycline exposure. All groups have same schedule of study procedures, including echocardiography, cardiopulmonary exercise testing, and blood collection.

Treatment:

Diagnostic Test: echocardiography

Other: Cardiopulmonary Exercise Testing

Other: Blood Collection